Associated Papers
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Kim JM et al.
Human Genomics, 2025
39762984 (PubMed )
Supplement: 40246_2024_709_MOESM1_ESM.pdf
Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene.
Park K et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
Park SE et al.
European Journal of Endocrinology, 2011
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